Hunter syndrome
Hunter syndrome Causes
As with all types of MPS, Hunter syndrome is caused when a person does not have a specific enzyme his or her body needs to break down glycosaminoglycans ? molecules formed from long chains of complex carbohydrates.
Hunter syndrome Definition
Hunter syndrome is an inherited metabolic disorder that arises when an enzyme the body needs to break down molecules called glycosaminoglycans, or mucopolysaccharides, is either missing or malfunctioning.
Hunter syndrome Diagnosis
Confirmation of a diagnosis of Hunter syndrome needs tests performed on blood, urine or tissue samples.
Hunter syndrome Symptoms and Signs
Signs and symptoms of MPS II A include: a decline in development, which usually appears between ages 1 1/2 and 3, followed by a progressive loss of skills; coarse facial features, including thickening of the lips, tongue and nostrils; abnormal bone size or shape and other skeletal irregularities; enlarged internal organs, such as the liver and spleen, resulting in a distended abdomen; and respiratory difficulties including sleep apnea, a condition in which breathing intermittently stops during sleep. Signs and symptoms of MPS II B include: abnormal bone size or shape and other skeletal irregularities, but less severe than in MPS II A; somewhat stunted growth; poor peripheral vision; and joint stiffness.
Hunter syndrome Treatment
Because there is no cure for Hunter syndrome, treatment concentrates on managing signs and symptoms and to provide relief to the patient as the disease progresses. Some treatments may involve the following: relief for respiratory complications; addressing cardiac complications; treatment for skeletal and connective tissue problems; and managing neurological complications.